ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) (rs370450339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246418 SCV000319067 likely benign Cardiovascular phenotype 2013-11-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728842 SCV000856460 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000614907 SCV000716380 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000458978 SCV000555323 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-30 criteria provided, single submitter clinical testing

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